ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825324641
Gene: VPS13A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001018048.1:p.Arg1962Cys
CA5092885
NM_001018038.3:c.5884C>T